Scvorțova, Elena
(Asociația Obștească ”Economie, Management și Psihologie în Medicină” din Republica Moldova, 2014)
Knowledge of how mutations other than p.H1069Q translate into the basic defect in Wilson disease (WD) is scarce due to the low incidence of homozygous index cases. A total of 12 homozygous mutations of ATP7B, were examined ...